ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000116.5(TAZ):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAZ):c.542-3C>G rs781795144
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_032861.4(SERAC1):c.91+6T>C rs1554265452

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.